A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6240651



Internal ID22045261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9891061..9891061hg38UCSC Ensembl
chr12:10043660..10043660hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17843567
Samples
Known GenesKLRF2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6240651
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer